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Unit of study_
GMED5002: Genomics, Omics and Medical Applications
2024 unit information
Recent technological advances in genetics and genomics have had a significant impact on medical care. This unit provides an introduction to the detection of genetic variation in the context of human disease and an overview of bioinformatics techniques and approaches for the analysis of genomic and other omic data. Technologies include types of deep resequencing including whole exome and whole genome sequencing the library preparation methods and sequencing chemistries and platforms. Methodologies and applications to diseases discussed include detection of base substitutions and splicing variants copy number variants and other structural variants. An understanding of which methodologies to be used to detect different types of genetic variants will be developed. An experiential-learning approach with clinical cases will be used to illustrate the importance of integrating phenotypic data genomic information and variant interpretation for accurate diagnosis. You will discuss techniques to prioritise variant pathogenicity and the application of new technologies in gene editing as well as omic technologies including transcriptomics proteomics and metabolomics and their current and future application to medical care.
Unit details and rules
Managing faculty or University school:
Medicine and Health
| Study level | Postgraduate |
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| Academic unit | Genomic Medicine |
| Credit points | 6 |
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Prerequisites:
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None |
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Corequisites:
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None |
| Prohibitions:
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None |
| Assumed knowledge:
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This unit assumes knowledge equivalent to GMED5001. It is strongly recommended that students who lack a good working knowledge of genomics complete GMED5001 before enrolling in this unit or take it concurrently with GMED5001 |
At the completion of this unit, you should be able to:
- LO1. Describe different types of genomic variants and their potential impact on gene function
- LO2. Explain various methods routinely used for the detection of genomic variants and identify the limitations of these methods.
- LO3. Interpret the pathogenicity of genomic variants using standard classification guidelines and evaluate tools that are used for interpretation
- LO4. Explain the role of segregation in the interpretation of the pathogenicity of genomic variants
- LO5. Outline the importance of functional genomics and evaluate some of the functional genomic techniques that can be used to determine the pathogenicity of genomic variants
- LO6. Describe the clinical utility of metabolomics and proteomics and outline their advantages and disadvantages in studying human disease
- LO7. Describe the challenges for other genomic testing, e.g. pathogen genomics and cancer genomics, and the methods that are used to overcome these challenges
Unit availability
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